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Баранов А.А., Намазова-Баранова Л.С., Боровик Т.Э., Ладодо К.С., Бушуева Т.В., Маслова О.И., Кузенкова Л.М., Журкова Н.В., Звонкова Н.Г. и др. Диетотерапия при наследственных болезнях аминокислотного обмена Методическое письмо. Москва. 2013. 97 с.

MP 2.3.1.2432-08 «Нормы физиологических потребностей в энергии и пищевых веществах для различных групп населения Российской Федерации» (утв. Главным государственным санитарным врачом РФ 18 декабря 2008 г.).
Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR: Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet 2012, 44:1152–1155.
Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B: Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med 2008, 358:1454–1464.
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C: Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet 2006, 142C:104–112.
Filippi L, Gozzini E, Fiorini P, Malvagia S, Ia M,G, Donati MA: N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology 2010, 97:286–290.
Fowler B, Leonard JV, Baumgartner MR: Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008, 31:350–360.
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JB, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis 2009, 32:630–639.
Ma X, Zhang Y, Yang Y, Liu X, Yang Z, Bao X, Qin J, Wu X: Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis. Brain Dev 2011, 33:790–795.
Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic academia Baumgartner et al. Orphanet Journal of Rare Diseases 2014, 9:130. http://www.ojrd.com/content/9/1/130
Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gokcay G, Grunewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Mueller E, Kölker S, Hörster F: Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis 2008, 31:361–367.